No paralogue variants have been mapped to residue 302 for KCNJ2.
KCNJ2 | IDEDSPLYDLSKQDID-NADFEIVVILEGM>V<EATAMTTQCRSSYLANEILWGHRYEPVLFE | 332 |
KCNJ1 | IDHNSPFFHMAAETLL-QQDFELVVFLDGT>V<ESTSATCQVRTSYVPEEVLWGYRFAPIVSK | 331 |
KCNJ3 | IDAKSPFYDLSQRSMQ-TEQFEIVVILEGI>V<ETTGMTCQARTSYTEDEVLWGHRFFPVISL | 333 |
KCNJ4 | IDEDSPLYGMGKEELE-SEDFEIVVILEGM>V<EATAMTTQARSSYLASEILWGHRFEPVVFE | 324 |
KCNJ5 | INQKSPFWEMSQAQLH-QEEFEVVVILEGM>V<EATGMTCQARSSYMDTEVLWGHRFTPVLTL | 339 |
KCNJ6 | INQQSPFWEISKAQLP-KEELEIVVILEGM>V<EATGMTCQARSSYITSEILWGYRFTPVLTL | 342 |
KCNJ8 | IDKRSPLYDISATDLA-NQDLEVIVILEGV>V<ETTGITTQARTSYIAEEIQWGHRFVSIVTE | 330 |
KCNJ9 | IDAASPFWEASRRALE-RDDFEIVVILEGM>V<EATGMTCQARSSYLVDEVLWGHRFTSVLTL | 310 |
KCNJ10 | VDETSPLKDLPLRSG--EGDFELVLILSGT>V<ESTSATCQVRTSYLPEEILWGYEFTPAISL | 317 |
KCNJ11 | IDANSPLYDLAPSDLHHHQDLEIIVILEGV>V<ETTGITTQARTSYLADEILWGQRFVPIVAE | 321 |
KCNJ12 | IDEASPLFGISRQDLE-TDDFEIVVILEGM>V<EATAMTTQARSSYLANEILWGHRFEPVLFE | 333 |
KCNJ13 | ITPSSPLATLLQHE-N-PSHFELVVFLSAM>Q<EGTGEICQRRTSYLPSEIMLHHCFASLLTR | 305 |
KCNJ14 | IDSASPLYELGRAELA-RADFELVVILEGM>V<EATAMTTQCRSSYLPGELLWGHRFEPVLFQ | 337 |
KCNJ15 | LDETSPLRDLTPQNLK-EKEFELVVLLNAT>V<ESTSAVCQSRTSYIPEEIYWGFEFVPVVSL | 317 |
KCNJ16 | IDHESPLYALDRKAVA-KDNFEILVTFIYT>G<DSTGTSHQSRSSYVPREILWGHRFNDVLEV | 316 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V302M | c.904G>A | Inherited Arrhythmia | LQTS | rs104894582 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 110(3):381-8. 12163457 | ||
Inherited Arrhythmia | LQTS | Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. FASEB J. 2012 26(2):513-22. 22002906 | |||
Inherited Arrhythmia | LQTS | Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. 2003 278(51):51779-85. 14522976 |